Alexa M.C. Vermeer, M.D., works as a resident at the Department of Clinical Genetics of the Academic Medical Center in Amsterdam. Her Ph.D. project focuses on hypertrophic cardiomyopathy.
Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
Article first published online: 21 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Disorders of Left Ventricular Trabeculation/Compaction or Right Ventricular Wall Formation
Volume 163, Issue 3, pages 178–184, August 2013
How to Cite
2013. Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7. Am J Med Genet Part C Semin Med Genet 163C:178–184., , , , , , , .
Conflicts of interest: none.
- Issue published online: 23 JUL 2013
- Article first published online: 21 JUN 2013
- Ebstein anomaly;
- isolated noncompaction of the left ventricular myocardium;
- heart defects, congenital;
Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β-myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance. © 2013 Wiley Periodicals, Inc.